A novel de novo STXBP1 mutation is associated with mitochondrial complex I deficiency and late-onset juvenile-onset parkinsonism

作者：Keogh Michael J; Daud D; Pyle A; Griffin J Duff H; He L; Alston C L; Steele H; Taggart S; Basu A P; Taylor R W; Horvath R; Ramesh V; Chinnery Patrick F^*

来源：Neurogenetics, 2015, 16(1): 65-67.

DOI：10.1007/s10048-014-0431-z

• STXBP1
• Otahara
• Parkinsonism
• Mitochondria
• Complex I

Mutations in STXBP1 have recently been identified as a cause of infantile epileptic encephalopathy. The underlying mechanism of the disorder remains unclear and, recently, several case reports have described broad and progressive neurological phenotypes in addition to early-onset epilepsy. Herein, we describe a patient with early-onset epilepsy who subsequently developed a progressive neurological phenotype including parkinsonism in her early teens. A de novo mutation in STXBP1 (c.416C > T, p.(Pro139Leu)) was detected with exome sequencing together with profound impairment of complex I of the mitochondrial respiratory chain on muscle biopsy. These findings implicate a secondary impairment of mitochondrial function in the progressive nature of the disease phenotype.

• 出版日期2015-1
• 单位河北医科大学